NOC3L

NOC3 like DNA replication regulator, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 10:94333226-94362959

Previous symbols: [ "C10orf117" ]

Links

ENSG00000173145

∙ NCBI:64318 ∙ OMIM:610769 ∙ HGNC:24034 ∙ Uniprot:Q8WTT2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NOC3L gene.

not_specified (86 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOC3L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022451.11. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			85 clinvar	1 clinvar		86
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	85	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOC3L	protein_coding	protein_coding	ENST00000371361	21	47713

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.83e-14	0.963	125397	0	351	125748	0.00140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.446	371	396	0.937	0.0000193	5249
Missense in Polyphen		90	108.95	0.82609		1449
Synonymous	-0.107	136	134	1.01	0.00000621	1438
Loss of Function	2.34	29	46.1	0.629	0.00000250	588

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.00106
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000851	0.000816
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00236	0.00235
Middle Eastern	0.000851	0.000816
South Asian	0.00103	0.00101
Other	0.00151	0.00147

dbNSFP

Source: dbNSFP

Function: FUNCTION: May be required for adipogenesis. {ECO:0000250}.;

Recessive Scores

pRec: 0.0981

Intolerance Scores

loftool: 0.952
rvis_EVS: 2.14
rvis_percentile_EVS: 97.95

Haploinsufficiency Scores

pHI: 0.382
hipred: Y
hipred_score: 0.607
ghis: 0.482

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: N
gene_indispensability_score: 0.312

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Noc3l
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; cellular phenotype;

Zebrafish Information Network

Gene name: noc3l
Affected structure: neutrophil
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: regulation of transcription by RNA polymerase II;fat cell differentiation
Cellular component: nucleus;nucleolus;mitochondrion;nuclear speck
Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;chromatin binding;RNA binding